Congenital hypothyroidism: Clinical and laboratory characteristics in infants detected by neonatal screening.

A pilot cord serum thyroid-stimulating hormone (TSH) screening program for congenital hypothyroidism began in December 1988 at the Ministry of Health Maternity Hospitals in Riyadh. Out of 40,000 infants screened, 15 infants with congenital hypothyroidism have been detected. Of these, five had athyreosis, eight with ectopic thyroid glands, interestingly five of which had positive perchlorate discharge test suggestive of organification defects, and two had normally located glands with perchlorate discharge test suggestive of organification defects. The female to male ratio was 1.5:1. The clinical characteristics in our cases were not different from that previously reported. Although there was no significant difference in the mean cord T4 values among the different groups, the mean T4 values at recall in the aplastic group is significantly (P<0.001) lower than the cord results, (60.3 versus 15.3) and that is of recall for the ectopic group (15.3 versus 47.0). There was no significant difference in the mean TSH among the different groups in the cord and recall samples. The skeletal maturation was more delayed in the athyrotic group. The mean age at the time of recall was 17.8 days (range 6 to 64) and the mean age at the start of therapy was 20 days (range 8 to 64).